Literature DB >> 3305309

Diagnosis of genetic disease using recombinant DNA. Supplement.

D N Cooper, J Schmidtke.   

Abstract

Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means to diagnose inherited disease as the DNA level. We present here a list of recent reports of both direct and indirect analysis of human inherited disease which is intended to serve as a guide to current molecular genetic approaches to diagnostic medicine.

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Year:  1987        PMID： 3305309     DOI： 10.1007/BF00284717

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  157 in total

1.  DNA deletion in boy with Becker muscular dystrophy.

Authors:  S Hodgson; K Hart; A Walker; C Cole; L Johnson; M Bobrow; V Dubowitz; L Kunkel
Journal:  Lancet       Date:  1986-04-19       Impact factor: 79.321

2.  Restriction enzyme MaeIII for prenatal diagnosis of alpha 1-antitrypsin deficiency.

Authors:  D W Cox; G D Billingsley
Journal:  Lancet       Date:  1986-09-27       Impact factor: 79.321

3.  ApoE deficiency: markedly decreased levels of cellular ApoE mRNA.

Authors:  J M Anchors; R E Gregg; S W Law; H B Brewer
Journal:  Biochem Biophys Res Commun       Date:  1986-01-29       Impact factor: 3.575

4.  Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.

Authors:  A P Read; R V Thakker; K E Davies; R C Mountford; D P Brenton; M Davies; F Glorieux; R Harris; G N Hendy; A King
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

5.  Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19.

Authors:  M A Pericak-Vance; L H Yamaoka; R I Assinder; W Y Hung; R J Bartlett; J M Stajich; P C Gaskell; D A Ross; S Sherman; G H Fey
Journal:  Neurology       Date:  1986-11       Impact factor: 9.910

6.  Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.

Authors:  F Martiniuk; M Mehler; A Pellicer; S Tzall; G La Badie; C Hobart; A Ellenbogen; R Hirschhorn
Journal:  Proc Natl Acad Sci U S A       Date:  1986-12       Impact factor: 11.205

7.  Immunoglobulin and T-cell receptor gene rearrangement and expression in human lymphoid leukemia cells at different stages of maturation.

Authors:  M P Davey; K F Bongiovanni; W Kaulfersch; T Quertermous; J G Seidman; M S Hershfield; J Kurtzberg; B F Haynes; M M Davis; T A Waldmann
Journal:  Proc Natl Acad Sci U S A       Date:  1986-11       Impact factor: 11.205

8.  Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.

Authors:  M Lindlöf; H Kääriäinen; K E Davies; A de la Chapelle
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

9.  One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

Authors:  D Valerio; B M Dekker; M G Duyvesteyn; L van der Voorn; T M Berkvens; H van Ormondt; A J van der Eb
Journal:  EMBO J       Date:  1986-01       Impact factor: 11.598

10.  Alpha-thalassaemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end processing in the human alpha 2 globin gene.

Authors:  E Whitelaw; N Proudfoot
Journal:  EMBO J       Date:  1986-11       Impact factor: 11.598
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  12 in total

1.  Influence of mosaicism on sexing of human preembryos detected by the polymerase chain reaction.

Authors:  Y Katagiri; S Katayama
Journal:  J Assist Reprod Genet       Date:  1996-08       Impact factor: 3.412

2.  The CpG dinucleotide and human genetic disease.

Authors:  D N Cooper; H Youssoufian
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

Review 3.  Diagnosis of genetic disease using recombinant DNA. Second edition.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1989-11       Impact factor: 4.132

4.  Genetic analysis of DNA from single human oocytes: a model for preimplantation diagnosis of cystic fibrosis.

Authors:  C Coutelle; C Williams; A Handyside; K Hardy; R Winston; R Williamson
Journal:  BMJ       Date:  1989-07-01

5.  Start a DNA diagnostic service.

Authors:  K F Kelly; N E Haites; A W Johnston
Journal:  BMJ       Date:  1988-07-23

Review 6.  DNA polymorphism and the study of disease associations.

Authors:  D N Cooper; J F Clayton
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

7.  Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.

Authors:  N Dahl; K Hammarström-Heeroma; P Goonewardena; C Wadelius; K H Gustavson; G Holmgren; G J van Ommen; U Pettersson
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

8.  DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases.

Authors:  J C Defesche; M de Vissar; E Bakker; G Bouwsma; J J de Vijlder; P A Bolhuis
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

Review 9.  Diagnosis of human genetic disease using recombinant DNA. Fourth edition.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

Review 10.  Diagnosis of genetic disease using recombinant DNA. Third edition.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1991-09       Impact factor: 4.132
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